A Letter to the Editor in the Journal of the Neurological Sciences brings together patient advocates, clinicians, and researchers to highlight important gaps in what we currently know about mortality and life expectancy in facioscapulohumeral muscular dystrophy (FSHD).
Understanding mortality in FSHD
Understanding mortality (death rates) and survival in FSHD is important for people living with the condition, their families, and healthcare professionals.
FSHD Europe is among the contributors to a new Letter to the Editor responding to a recent systematic review of mortality in FSHD. Published in the Journal of the Neurological Sciences, our letter calls for further research to build a clearer and more reliable understanding of mortality and survival across the FSHD population.
What did the systematic review find?
The systematic review by Li and colleagues examined published research on mortality in FSHD. It identified eight studies, published between 1979 and 2016, involving a total of 1,091 people with FSHD across five countries.
The review reported deaths within the groups studied and identified respiratory and heart-related causes of death among reported cases. It suggested that FSHD may affect survival for some people, while also recognising that more research is needed.
In our Letter to the Editor, however, we explain why these findings should be interpreted carefully. Most of the studies were retrospective and carried out in specialist hospital settings. They were not originally designed to investigate mortality, and people seen at specialist referral centres may have more severe disease or additional complications than the wider FSHD population.
As a result, the age at which people died in these studies does not, by itself, tell us whether people with FSHD have a shorter life expectancy than the general population.
Why do we need better evidence?
In our Letter, we call for well-designed population-based studies that can provide a more accurate picture of mortality and survival in FSHD.
One approach would be to combine data from national FSHD registries with national mortality statistics. This would allow researchers to compare the number of deaths among people with FSHD with the number expected in the wider population.
We also note that mortality patterns may differ between countries because of variations in life expectancy, healthcare systems, palliative care services, and policies relating to assisted dying. This makes high-quality, country-specific research especially important.
The Letter also highlights that FSHD exists across a spectrum. While distinguishing between childhood-onset and classical FSHD can be useful for research, childhood-onset FSHD remains part of the broader FSHD spectrum. We believe that researchers should take care when defining these groups, particularly as overly rigid classifications could have implications for how patients access emerging therapies.
Why does this matter to the FSHD community?
Information about mortality and life expectancy can have a significant impact on people living with FSHD, their families and the professionals who support them. It can influence expectations, discussions with healthcare teams and decisions about care.
For this reason, information about mortality in FSHD should be based on robust evidence and communicated with appropriate context. We recognise the value of the published review and the important questions it raises. At the same time, we believe the current evidence remains too limited and inconsistent to draw firm conclusions about mortality or life expectancy across the full FSHD spectrum.
The findings published so far should be seen as an important starting point for further research, rather than definitive evidence about life expectancy in FSHD.
Keeping patients and patient organisations in the scientific conversation
Our Letter was developed through collaboration between patient advocates, clinicians, researchers and people with lived experience from across the global FSHD community.
The authors include FSHD Europe CEO Ria de Haas and Medical Advisor and European Trial Network Chair Nicol Voermans, alongside representatives from FSHD Global Research Foundation and FSHD UK, as well as colleagues from academic and clinical centres across Europe and the UK.
For all of us involved, this collaboration reflects the importance of ensuring that people living with FSHD and patient organisations remain an active part of the scientific conversation.
What would we like to see next?
We would like to see well-designed, population-based studies that can provide more reliable information about mortality and survival in FSHD.
Better evidence would help people living with FSHD, families, healthcare professionals, researchers and policymakers make more informed decisions. It could also support future health-economic assessments and healthcare planning.
We welcome continued research in this area and look forward to contributing to the growing evidence base.
Read our open-source Letter to the Editor
https://www.jns-journal.com/article/S0022-510X(26)00431-4/abstract
View it open access here till 9 October 2026: https://authors.elsevier.com/c/1ne4-,WmRclbQ
Reumers et al., Mortality in FSHD: a call for epidemiological research, Journal of the Neurological Sciences, 2026. DOI: 10.1016/j.jns.2026.126149.